gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177291C>T , CM000678.2:g.177291C>T | GRCh38 |
| NC_000016.9:g.227290C>T , CM000678.1:g.227290C>T | GRCh37 |
| NC_000016.8:g.167290C>T | NCBI36 |
| NG_000006.1:g.38154C>T | |
| NG_059186.1:g.5641C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.309C>T MANE Select | ENSP00000322421.5:p.Ser103= | |
| ENST00000397797.1:c.213C>T | ENSP00000380899.1:p.Ser71= | |
| ENST00000472694.1:n.445C>T | ||
| NM_000558.4:c.309C>T | NP_000549.1:p.Ser103= | |
| NM_000558.5:c.309C>T MANE Select | NP_000549.1:p.Ser103= |